Genomics Services at BGC

MEDICAL SCIENCES

India harbours over a billion people and is rich in diversity and culture. Indian’s human gene pool is unique in the world and considered as living human genetic laboratory. This diversity is untapped through modern medical science. BGC has developed several proprietary and patented technology and kits related to medical genetic screening including HLA, Thalassemia, Sickle Cell Anemia, Post Bone Marrow Transplant Chimera, etc.

HLA Haplotyping:
The information of Human Leukocyte Antigen (HLA) genes (class I and II) is important for organ transplantation (bone marrow, liver, kidney) and immunity. The foregoing HLA typing methods can detect known alleles which only cover partial HLA gene (exon 2 and 3 of class I, and exon 2 of class II). Moreover, these methods are expensive and only provide low resolution, less accurate and lack of haplotype information. BGC has developed HLA haplotyping methodology using single molecule sequencing (Gowda 2016; Patent pending). This method capture and sequence complete full-length of Class I and Class II HLA genes. We have bioinformatics tools which resolves paternal and maternal alleles.
Advantages of BGC method * It provides high resolution of HLA alleles * It provides full gene length information * It provides haplotype information * It provides sequence information of protein coding (exon) and noncoding (UTRs, introns) regions * This method is highly accurate and low cost of typing compared to other methods.

BGC

Who can undergo Testing - Organ recipients and donors, family and unrealted organ donors, organ registries

Sickle Cell Anemia: It is one of major Hemoglobinopathies or blood disorders. This is caused by specific mutations in β-globin gene, which change haemoglobin structure and lead to formation of sickle shaped red blood cells, which reduces oxygen supply to organs and require frequent blood transfusion.

β-Thalassemia : It is the major blood disorders in Indian population. The specific mutation (deletion/Insertion/substitution) in the β-globin gene causes frameshift or premature stop codon(s) in the protein coding open reading frame. This may lead to loss of protein or synthesis of totally different protein, which may not participate in haemoglobin formation. These patients experience low level of oxygen in their blood and require frequent blood transfusion.

Pedigree Test for Sickle Cell Anemia and Thalassemia There are no proper assay kits available in India to test all mutations in betaglobin gene. BGC Assay test provide comprehensive mutations in the globin gene sequence including exons, UTR, promoter and introns.

Who can undergo Testing - The Thalassemia and Sickle Cell Anemia mutation test can be performed at the prenatal and postnatal, new-born babies, kids, healthy and carrier adults. Carrier Individuals may not express the symptom in heterozygous conditions. BGC test can able to trace these mutations in individuals and predict the possibility of sickle cell and/or thalassemia conditions in the next generation or in their children.